TY - JOUR
T1 - Grouping preprocess for haplotype inference from SNP and CNV data
AU - Shindo, Hiroyuki
AU - Chigira, Hiroshi
AU - Nagaoka, Tomoyo
AU - Kamatani, Naoyuki
AU - Inoue, Masato
PY - 2009
Y1 - 2009
N2 - The method of statistical haplotype inference is an indispensable technique in the field of medical science. The authors previously reported Hardy-Weinberg equilibrium-based haplotype inference that could manage single nucleotide polymorphism (SNP) data. We recently extended the method to cover copy number variation (CNV) data. Haplotype inference from mixed data is important because SNPs and CNVs are occasionally in linkage disequilibrium. The idea underlying the proposed method is simple, but the algorithm for it needs to be quite elaborate to reduce the calculation cost. Consequently, we have focused on the details on the algorithm in this study. Although the main advantage of the method is accuracy, in that it does not use any approximation, its main disadvantage is still the calculation cost, which is sometimes intractable for large data sets with missing values.
AB - The method of statistical haplotype inference is an indispensable technique in the field of medical science. The authors previously reported Hardy-Weinberg equilibrium-based haplotype inference that could manage single nucleotide polymorphism (SNP) data. We recently extended the method to cover copy number variation (CNV) data. Haplotype inference from mixed data is important because SNPs and CNVs are occasionally in linkage disequilibrium. The idea underlying the proposed method is simple, but the algorithm for it needs to be quite elaborate to reduce the calculation cost. Consequently, we have focused on the details on the algorithm in this study. Although the main advantage of the method is accuracy, in that it does not use any approximation, its main disadvantage is still the calculation cost, which is sometimes intractable for large data sets with missing values.
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U2 - 10.1088/1742-6596/197/1/012009
DO - 10.1088/1742-6596/197/1/012009
M3 - Article
AN - SCOPUS:74349105923
SN - 1742-6588
VL - 197
JO - Journal of Physics: Conference Series
JF - Journal of Physics: Conference Series
M1 - 012009
ER -